FGF23 : fibroblast growth factor 23

Description

The FGF23 (fibroblast growth factor 23) is a protein-coding gene located on chromosome 12.

The FGF23 gene provides instructions for making fibroblast growth factor 23 (FGF23), a protein produced in bone cells. FGF23 is crucial for regulating phosphate levels in the body, a mineral essential for bone formation and growth in children and maintaining bone strength in adults. Phosphate levels are primarily controlled by the kidneys, which excrete excess phosphate in urine and reabsorb it when needed. FGF23 signals the kidneys to stop reabsorbing phosphate into the bloodstream. To function, FGF23 must be released from the cell and bind to a receptor protein. Glycosylation, the attachment of sugar molecules to FGF23 by ppGalNacT3, allows its release from the cell and protects it from breakdown. Outside the bone cell, FGF23 binds to FGF receptor 1 on kidney cells, triggering signaling that inhibits phosphate reabsorption. FGF23 also influences phosphate absorption in the intestines and plays a role in vitamin D regulation. The protein is normally cleaved at a specific site, inactivating it and regulating the amount of active FGF23 in the bloodstream.

FGF23 regulates phosphate homeostasis by inhibiting renal tubular phosphate transport through the reduction of SLC34A1 levels. It upregulates EGR1 expression in the presence of KL, directly acts on the parathyroid to decrease PTH secretion, and regulates vitamin-D metabolism. FGF23 negatively regulates osteoblast differentiation and matrix mineralization.

FGF23 is also known as ADHR, FGFN, HFTC2, HPDR2, HYPF, PHPTC.

Associated Diseases

• Tumoral calcinosis, hyperphosphatemic, familial, 2
• Autosomal dominant hypophosphatemic rickets
• Hypophosphatemic rickets, autosomal dominant
• Hereditary hypophosphatemic rickets
• Hyperphosphatemic familial tumoral calcinosis
• Kidney stones